rs587777924
From SNPedia
Merged into | rs121908768 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
Make rs587777924(-;-) |
Make rs587777924(-;TCT) |
Make rs587777924(TCT;TCT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 117540165 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs587777924 |
dbSNP (classic) | rs587777924 |
ClinGen | rs587777924 |
ebi | rs587777924 |
HLI | rs587777924 |
Exac | rs587777924 |
Gnomad | rs587777924 |
Varsome | rs587777924 |
LitVar | rs587777924 |
Map | rs587777924 |
PheGenI | rs587777924 |
Biobank | rs587777924 |
1000 genomes | rs587777924 |
hgdp | rs587777924 |
ensembl | rs587777924 |
geneview | rs587777924 |
scholar | rs587777924 |
rs587777924 | |
pharmgkb | rs587777924 |
gwascentral | rs587777924 |
openSNP | rs587777924 |
23andMe | rs587777924 |
SNPshot | rs587777924 |
SNPdbe | rs587777924 |
MSV3d | rs587777924 |
GWAS Ctlg | rs587777924 |
Status | Merged into rs121908768 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs587777924(CTT;CTT) |
Significance | Pathogenic |
Disease | Cystic fibrosis not provided |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.117180219_117180221delTCT |
CLNSRC | Cystic Fibrosis Mutation Database HGMD |
CLNACC | RCV000047290.3, RCV000079015.3, |